{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1415","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1413","results":[{"created":"2021-02-09T09:12:20.594995+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.332","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CD320 was added\ngene: CD320 was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD320 were set to 29663633; 27604308; 30303736\nPhenotypes for gene: CD320 were set to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: CD320 was set to GREEN\nAdded comment: At least 9 cases reported with biallelic variants, all but 1 case are homozygous for p.Glu88del. The AF of this variant is ~1% in gnomAD v2.1.1, with 12 homozygotes. However, this is not unexpected given the apparent asymptomatic nature of the metabolic condition. Null mouse model has vitamin B12 deficiency. \nSources: Literature","entity_name":"CD320","entity_type":"gene"},{"created":"2021-02-08T21:20:54.949690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUGCT as ready","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T21:20:54.938997+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sugct has been classified as Amber List (Moderate Evidence).","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T21:20:47.242831+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6293","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUGCT were changed from  to Glutaric aciduria III MIM#231690; Organic acidurias","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T21:20:29.820416+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6292","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SUGCT were set to ","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T21:20:09.423105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6291","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SUGCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T21:19:51.570021+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUGCT as Amber List (moderate evidence)","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T21:19:51.562713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sugct has been classified as Amber List (Moderate Evidence).","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T21:19:33.094378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6289","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SUGCT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28766179, 18926513, 33483254, 32779420, 27604308; Phenotypes: Glutaric aciduria III MIM#231690, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T21:18:05.409197+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC36A2 as ready","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T21:18:05.400703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc36a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T21:17:56.392888+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6289","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC36A2 were changed from  to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T21:17:20.787795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6288","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC36A2 were set to ","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T21:16:54.761033+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6287","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC36A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T21:16:37.370568+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6286","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC36A2 as Amber List (moderate evidence)","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T21:16:37.363017+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc36a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T21:16:17.719312+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6285","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC36A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19033659, 26141664, 27604308; Phenotypes: Hyperglycinuria MIM#138500, Iminoglycinuria, digenic MIM#242600, Disorders of amino acid transport; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T21:15:08.345493+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6285","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SARDH as ready","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T21:15:08.337620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sardh has been classified as Amber List (Moderate Evidence).","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T21:13:58.750938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6285","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SARDH were changed from  to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T21:13:35.421505+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6284","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SARDH were set to ","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T21:13:15.345220+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6283","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SARDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T21:12:57.329823+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6282","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SARDH as Amber List (moderate evidence)","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T21:12:57.322948+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sardh has been classified as Amber List (Moderate Evidence).","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T21:12:39.660905+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6281","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SARDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 22825317, 27604308; Phenotypes: Sarcosinemia MIM#268900, Disorders of serine, glycine or glycerate metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T19:09:11.548339+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6281","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPLAH as ready","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:09:11.537386+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6281","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oplah has been classified as Amber List (Moderate Evidence).","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:09:04.312407+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6281","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPLAH were changed from  to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:08:44.637533+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6280","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPLAH were set to ","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:08:24.553015+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6279","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OPLAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:02:02.788295+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6278","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OPLAH as Amber List (moderate evidence)","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:02:02.777217+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oplah has been classified as Amber List (Moderate Evidence).","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:01:44.943057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6277","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: OPLAH.","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:01:26.401226+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6277","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OPLAH: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 27477828; Phenotypes: 5-oxoprolinase deficiency MIM#260005, Disorders of the gamma-glutamyl cycle; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T19:00:00.582518+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6277","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KHK as ready","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T19:00:00.572963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: khk has been classified as Amber List (Moderate Evidence).","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T18:59:53.015196+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6277","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KHK were changed from  to Fructosuria MIM#229800; Disorders of fructose metabolism","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T18:59:31.474027+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6276","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KHK were set to ","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T18:59:11.007326+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6275","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KHK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T18:58:53.261402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6274","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KHK as Amber List (moderate evidence)","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T18:58:53.253353+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: khk has been classified as Amber List (Moderate Evidence).","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T18:58:36.268443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6273","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KHK: Rating: AMBER; Mode of pathogenicity: None; Publications: 7833921, 27604308, 29870677; Phenotypes: Fructosuria MIM#229800, Disorders of fructose metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T18:57:11.891222+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6273","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAL as ready","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T18:57:11.883698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6273","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hal has been classified as Amber List (Moderate Evidence).","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T18:57:02.210738+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6273","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAL were changed from  to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T18:56:27.297411+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6272","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HAL were set to ","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T18:56:07.446023+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6271","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HAL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T18:55:49.895383+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6270","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HAL as Amber List (moderate evidence)","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T18:55:49.887636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hal has been classified as Amber List (Moderate Evidence).","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T18:55:31.502100+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6269","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HAL: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 15806399, 20156889; Phenotypes: Histidinemia MIM#235800, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T18:54:01.042580+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6269","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GGT1 were changed from ?Glutathioninuria 231950 to Glutathioninuria 231950","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T18:38:38.989917+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6268","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GGT1 as Amber List (moderate evidence)","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T18:38:38.975818+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ggt1 has been classified as Amber List (Moderate Evidence).","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T18:38:20.794475+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6267","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T18:27:34.668344+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6267","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCXR as ready","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T18:27:34.659935+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6267","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcxr has been classified as Amber List (Moderate Evidence).","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T18:27:23.953938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6267","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCXR as Amber List (moderate evidence)","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T18:27:23.943964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6267","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcxr has been classified as Amber List (Moderate Evidence).","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T18:27:06.718698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6266","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DCXR was added\ngene: DCXR was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCXR were set to 22042873\nPhenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism\nReview for gene: DCXR was set to AMBER\nAdded comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign. \nSources: Expert list","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T18:25:07.903782+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTH as ready","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T18:25:07.891890+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cth has been classified as Amber List (Moderate Evidence).","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T18:25:00.918680+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTH were changed from  to Cystathioninuria MIM#219500","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T18:24:38.051431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6264","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTH were set to ","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T18:24:13.417086+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6263","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T18:23:55.712629+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6262","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTH as Amber List (moderate evidence)","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T18:23:55.704400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cth has been classified as Amber List (Moderate Evidence).","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T18:23:36.451903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6261","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTH: Rating: AMBER; Mode of pathogenicity: None; Publications: 12574942, 20584029, 24761004, 15151507; Phenotypes: Cystathioninuria MIM#219500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T18:22:01.631390+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACSF3 as ready","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T18:22:01.620500+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsf3 has been classified as Red List (Low Evidence).","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T18:21:56.251108+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACSF3 were set to ","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T18:21:41.260683+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACSF3 as Red List (low evidence)","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T18:21:41.249515+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsf3 has been classified as Red List (Low Evidence).","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T18:21:30.282868+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:51:41.269290+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:50:32.824990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6261","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACSF3 as ready","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:50:32.814475+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6261","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsf3 has been classified as Amber List (Moderate Evidence).","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:49:00.866941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6261","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACSF3 were changed from  to Combined malonic and methylmalonic aciduria MIM#614265","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:48:35.311483+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6260","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACSF3 were set to ","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:48:19.655346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6259","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACSF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:47:38.585852+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6258","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACSF3 as Amber List (moderate evidence)","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:47:38.575643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsf3 has been classified as Amber List (Moderate Evidence).","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:47:22.301309+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6257","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T17:44:08.887217+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: AASS.","entity_name":"AASS","entity_type":"gene"},{"created":"2021-02-08T17:31:12.289058+11:00","panel_name":"Neurodegenerative disease - adult onset","panel_id":3374,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-02-08T17:23:13.638655+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.331","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GATM as Green List (high evidence)","entity_name":"GATM","entity_type":"gene"},{"created":"2021-02-08T17:23:13.628287+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.331","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gatm has been classified as Green List (High Evidence).","entity_name":"GATM","entity_type":"gene"},{"created":"2021-02-08T17:23:00.959896+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.330","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GATM was added\ngene: GATM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GATM were set to 11555793; 27604308\nPhenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718\nReview for gene: GATM was set to GREEN\ngene: GATM was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). L-arginine:glycine amidinotransferase (AGAT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism. \nSources: NHS GMS","entity_name":"GATM","entity_type":"gene"},{"created":"2021-02-08T16:32:12.501705+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.328","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KHK as ready","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T16:32:12.493945+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.328","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: khk has been classified as Amber List (Moderate Evidence).","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T16:32:09.239268+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.328","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KHK as Amber List (moderate evidence)","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T16:32:09.235458+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.328","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Likely a clinically benign condition","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T16:32:09.214018+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.328","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: khk has been classified as Amber List (Moderate Evidence).","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T16:31:16.667298+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.327","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KHK was added\ngene: KHK was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KHK were set to 7833921; 27604308; 29870677\nPhenotypes for gene: KHK were set to Fructosuria MIM#229800; Disorders of fructose metabolism\nReview for gene: KHK was set to AMBER\nAdded comment: Single family with a non-pathogenic phenotype and a supporting mouse model \nSources: Literature","entity_name":"KHK","entity_type":"gene"},{"created":"2021-02-08T16:14:16.652905+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.326","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GGT1 as ready","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T16:14:16.644167+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.326","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ggt1 has been classified as Amber List (Moderate Evidence).","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T16:14:11.992019+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.326","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GGT1 as Amber List (moderate evidence)","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T16:14:11.987212+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.326","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Dominant form appears to be a benign metabolic condition. Currently only one recessive family reported, therefore insufficient evidence to determine clinical phenotype.","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T16:14:11.961816+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.326","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ggt1 has been classified as Amber List (Moderate Evidence).","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T16:12:12.846261+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.325","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GGT1 was added\ngene: GGT1 was added to Miscellaneous Metabolic Disorders. Sources: Literature\nSV/CNV tags were added to gene: GGT1.\nMode of inheritance for gene: GGT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GGT1 were set to 31520399; 27604308; 23615310; 29483667\nPhenotypes for gene: GGT1 were set to Glutathioninuria MIM#231950; Disorders of the gamma-glutamyl cycle\nReview for gene: GGT1 was set to AMBER\nAdded comment: 2 unrelated families segregating heterozygous variants with GGTemia, with no clinical phentoype. 2 sibs with a 16.9 kb homozygous deletion with glutathionuria and mild psychomotor developmental delay and mild neurological symptoms. \nSources: Literature","entity_name":"GGT1","entity_type":"gene"},{"created":"2021-02-08T15:54:12.795276+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.324","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PREPL as ready","entity_name":"PREPL","entity_type":"gene"}]}